HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816242T>G , CM000681.2:g.4816242T>G | GRCh38 |
NC_000019.9:g.4816254T>G , CM000681.1:g.4816254T>G | GRCh37 |
NC_000019.8:g.4767254T>G | NCBI36 |
NG_031998.1:g.20501A>C , LRG_358:g.20501A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.2136A>C MANE Select | ENSP00000248244.4:p.Glu712Asp | |
ENST00000248244.5:c.2136A>C | ENSP00000248244.4:p.Glu712Asp | |
ENST00000621756.1:c.1638A>C | ENSP00000479467.1:p.Glu546Asp | |
NM_182919.3:c.2136A>C , LRG_358t1:c.2136A>C | NP_891549.1:p.Glu712Asp | |
NM_001385678.1:c.2094A>C | NP_001372607.1:p.Glu698Asp | |
NM_001385679.1:c.2001A>C | NP_001372608.1:p.Glu667Asp | |
NM_001385680.1:c.1494A>C | NP_001372609.1:p.Glu498Asp | |
NM_182919.4:c.2136A>C MANE Select | NP_891549.1:p.Glu712Asp |